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autosomal recessive limb-girdle muscular dystrophy type 2K

ORPHA: 868121 Treatment Available

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)

Available Treatments (1)

DrugFormStatusCountriesLead Time
physical therapy and orthotic management
—Standard of Care10—

Clinical Presentation

Signs and symptoms associated with autosomal recessive limb-girdle muscular dystrophy type 2K, sourced from HPO and Orphanet clinical annotations.

Difficulty climbing stairsMicrocephalyDelayed speech and language developmentIntellectual disabilityWaddling gaitLumbar hyperlordosisElevated circulating creatine kinase concentrationGowers signIncreased variability in muscle fiber diameterMuscular dystrophyCentrally nucleated skeletal muscle fibersProximal muscle weaknessThigh hypertrophyCalf muscle hypertrophyAutistic behaviorNeonatal hypotoniaCardiomyopathyLeft ventricular hypertrophyAbdominal painDyspneaRespiratory distressScoliosisMyopathySpinal rigidityLimb-girdle muscle weaknessEasy fatigabilityGeneralized amyotrophyType 1 muscle fiber predominanceImpaired visuospatial constructive cognitionCoughTriceps weaknessGait disturbance

Classification & Codes

Orphanet Code

ORPHA:86812
autosomal recessive limb-girdle muscular dystrophy type 2K
OrphanetORPHA:86812
Treatments1 drug(s)
Symptoms on record32 signs
Statuspublished

Treatment Summary

physical therapy and orthotic management
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO